brittle cornea syndrome 2

An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27.

Signs and symptoms

• Hearing impairment
• Joint hypermobility
• Blue sclerae
• Decreased corneal thickness
• Myopia
• Keratoconus
• Corneal perforation
• Keratoglobus
• Bruising susceptibility
• Myalgia